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Cellosaurus PUMCHi016-A (CVCL_B0GS)

[Text version]
Cell line name PUMCHi016-A
Synonyms SRF-USH2A-2
Accession CVCL_B0GS
Resource Identification Initiative To cite this cell line use: PUMCHi016-A (RRID:CVCL_B0GS)
Comments From: Peking Union Medical College Hospital; Beijing; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 12601; USH2A; Simple; c.8559-2A>G (p.Tyr2854_Arg2894del); ClinVar=VCV000048604; Zygosity=Homozygous; Note=Splice acceptor mutation (PubMed=34419747).
Disease Retinitis pigmentosa (NCIt: C85045)
Usher syndrome type 2 (NCIt: C126328)
Retinitis pigmentosa (ORDO: Orphanet_791)
Usher syndrome type 2 (ORDO: Orphanet_231178)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 30Y
Category Induced pluripotent stem cell
Publications

PubMed=34419747; DOI=10.1016/j.scr.2021.102502
Zhu T., Wu S.-J., Sun Z.-X., Wei X., Han X.-X., Zou X., Sui R.-F.
Generation of two human induced pluripotent stem cell lines from patients with biallelic USH2A variants.
Stem Cell Res. 55:102502-102502(2021)

Cross-references
Cell line databases/resources hPSCreg; PUMCHi016-A
Encyclopedic resources Wikidata; Q108821191
Entry history
Entry creation23-Sep-2021
Last entry update29-Jun-2023
Version number4